rs63750067
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;G) | 3 | Alpha-thalassemia allele carrier |
| Make rs63750067(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173692 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750067 |
| dbSNP (classic) | rs63750067 |
| ClinGen | rs63750067 |
| ebi | rs63750067 |
| HLI | rs63750067 |
| Exac | rs63750067 |
| Gnomad | rs63750067 |
| Varsome | rs63750067 |
| LitVar | rs63750067 |
| Map | rs63750067 |
| PheGenI | rs63750067 |
| Biobank | rs63750067 |
| 1000 genomes | rs63750067 |
| hgdp | rs63750067 |
| ensembl | rs63750067 |
| geneview | rs63750067 |
| scholar | rs63750067 |
| rs63750067 | |
| pharmgkb | rs63750067 |
| gwascentral | rs63750067 |
| openSNP | rs63750067 |
| 23andMe | rs63750067 |
| SNPshot | rs63750067 |
| SNPdbe | rs63750067 |
| MSV3d | rs63750067 |
| GWAS Ctlg | rs63750067 |
| Max Magnitude | 3 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs63750067(G;G) |
| Alt | rs63750067(G;G) |
| Reference | Rs63750067(A;A) |
| Significance | Pathogenic |
| Disease | Alpha-thalassemia-2 Hemoglobin H disease |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | Alpha-thalassemia-2, nondeletional Hemoglobin H disease, nondeletional |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223691A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016933.26, RCV000022604.4, |
[PMID 1281602] Hb H disease caused by a homozygosity for the AATAAA-->AATAAG mutation in the polyadenylation site of the alpha 2-globin gene: hematological observations.
[PMID 1581238] Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation.
[PMID 7701914] Molecular characterization of alpha-thalassemia determinants, beta-thalassemia alleles, and beta S haplotypes among Kuwaiti Arabs.
